検索結果 - Zaid Afawi

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  1. 1
    Gene and Cell Therapy for Epilepsy: A Mini Review

    Gene and Cell Therapy for Epilepsy: A Mini Review 著者: Alisa A. Shaimardanova, Daria S. Chulpanova, Aysilu I. Mullagulova, Zaid Afawi, Rimma Gamirova, Valeriya V. Solovyeva, Albert A. Rizvanov

    出版事項 2022
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    Revisão
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  2. 2
    Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

    Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures 著者: Sarah E. Heron, Kimberly H. Cox, Bronwyn E. Grinton, Sameer M. Zuberi, Sara Kivity, Zaid Afawi, Rachel Straussberg, Samuel F. Berkovic, Ingrid E. Scheffer, John C. Mulley

    出版事項 2007
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    Carta
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  3. 3
    <i>PRRT2</i> phenotypic spectrum includes sporadic and fever-related infantile seizures

    <i>PRRT2</i> phenotypic spectrum includes sporadic and fever-related infantile seizures 著者: Ingrid E. Scheffer, Bronwyn E. Grinton, Sarah E. Heron, Sara Kivity, Zaid Afawi, Xenia Iona, Hadassa Goldberg‐Stern, Maria Kinali, Ian Andrews, Renzo Guerrini, Carla Marini, Lynette G. Sadleir, Samuel F. Berkovic, Leanne M. Dibbens

    出版事項 2012
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    Artigo
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  4. 4
    A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

    A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24 著者: Mark Corbett, Melanie Bahlo, Lachlan A. Jolly, Zaid Afawi, Alison Gardner, Karen Oliver, Stanley Tan, A. Kirtland Coffey, John C. Mulley, Leanne M. Dibbens, Simri Walid, Adel Shalata, Sara Kivity, Graeme D. Jackson, Samuel F. Berkovic, Jozef Gécz

    出版事項 2010
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    Artigo
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  5. 5
    Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

    Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy 著者: Richard D. Bagnall, Douglas E. Crompton, Slavé Petrovski, Lien Lam, Carina Cutmore, Sarah Garry, Lynette G. Sadleir, Leanne M. Dibbens, Anita Cairns, Sara Kivity, Zaid Afawi, Brigid M. Regan, Johan Duflou, Samuel F. Berkovic, Ingrid E. Scheffer, Christopher Semsarian

    出版事項 2015
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    Artigo
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  6. 6
    Rare Noncoding Mutations Extend the Mutational Spectrum in the <i>PGAP3</i> Subtype of Hyperphosphatasia with Mental Retardation Syndrome

    Rare Noncoding Mutations Extend the Mutational Spectrum in the <i>PGAP3</i> Subtype of Hyperphosphatasia with Mental Retardation Syndrome 著者: Alexej Knaus, Tomonari Awaya, Ingo Helbig, Zaid Afawi, Manuela Pendziwiat, Jubran Abu‐Rachma, Miles D. Thompson, David E.C. Cole, Steve Skinner, Fran Annese, Natalie Canham, Michal R. Schweiger, Peter N. Robinson, Stefan Mundlos, Taroh Kinoshita, Arnold Münnich, Yoshiko Murakami, Denise Horn, Peter Krawitz

    出版事項 2016
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    Artigo
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  7. 7
    Mutation of the nuclear lamin gene<i>LMNB2</i>in progressive myoclonus epilepsy with early ataxia

    Mutation of the nuclear lamin gene<i>LMNB2</i>in progressive myoclonus epilepsy with early ataxia 著者: John A. Damiano, Zaid Afawi, Melanie Bahlo, Monika Mauermann, Adel Misk, Todor Arsov, Karen Oliver, Hans‐Henrik M. Dahl, A. Eliot Shearer, Richard J. Smith, Nathan E. Hall, Khalid Mahmood, Richard J. Leventer, Ingrid E. Scheffer, Mikko Muona, Anna-Elina Lehesjoki, Amos D. Korczyn, Harald Herrmann, Samuel F. Berkovic, Michael S. Hildebrand

    出版事項 2015
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    Artigo
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  8. 8
    <i>SCN1A</i> duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

    <i>SCN1A</i> duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis 著者: Carla Marini, Ingrid E. Scheffer, Rima Nabbout, Davide Mei, Kathy Cox, Leanne M. Dibbens, Jacinta M. McMahon, Xenia Iona, Rochio Sanchez Carpintero, Maurizio Elia, Maria Roberta Cilio, Nicola Specchio, Lucio Giordano, Pasquale Striano, Elena Di Gennaro, J. Helen Cross, Sara Kivity, Miriam Y. Neufeld, Zaid Afawi, Eva Andermann, Daniel Keene, Olivier Dulac, Federico Zara, Samuel F. Berkovic, Renzo Guerrini, John C. Mulley

    出版事項 2009
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    Artigo
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  9. 9
    PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

    PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome 著者: Sarah E. Heron, Bronwyn E. Grinton, Sara Kivity, Zaid Afawi, Sameer M. Zuberi, James N. Hughes, Clair Pridmore, Bree Hodgson, Xenia Iona, Lynette G. Sadleir, James T. Pelekanos, Eric Herlenius, Hadassa Goldberg‐Stern, Haim Bassan, Eric Haan, Amos D. Korczyn, Alison Gardner, Mark Corbett, Jozef Gécz, Paul Q. Thomas, John C. Mulley, Samuel F. Berkovic, Ingrid E. Scheffer, Leanne M. Dibbens

    出版事項 2012
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    Artigo
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  10. 10
    Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

    Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients 著者: Carolien G. F. de Kovel, Eva H. Brilstra, Marjan J. A. van Kempen, Ruben van’t Slot, Isaäc J. Nijman, Zaid Afawi, Peter De Jonghe, Tania Djémié, Renzo Guerrini, Katia Hardies, Ingo Helbig, Rik Hendrickx, Moine Kanaan, Uri Kramer, Anna‐Elina Lehesjoki, Johannes R. Lemke, Carla Marini, Davide Mei, Rikke S. Møller, Manuela Pendziwiat, Hannah Stamberger, Arvid Suls, Sarah Weckhuysen, Bobby P.C. Koeleman

    出版事項 2016
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    Artigo
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  11. 11
    Epilepsy and mental retardation limited to females: an under-recognized disorder

    Epilepsy and mental retardation limited to females: an under-recognized disorder 著者: Ingrid E. Scheffer, Samantha J. Turner, Leanne M. Dibbens, Marta A. Bayly, Kathryn Friend, Bree Hodgson, Linda Burrows, Marie Shaw, Wei Chen, Reinhard Ullmann, Hans‐Hilger Ropers, Pierre Szepetowski, Eric Haan, Aziz Mazarib, Zaid Afawi, Miriam Y. Neufeld, P. Ian Andrews, Geoffrey Wallace, Sara Kivity, Dorit Lev, Tally Lerman‐Sagie, Christopher P. Derry, Amos D. Korczyn, Jozef Gécz, John C. Mulley, Samuel F. Berkovic

    出版事項 2008
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    Artigo
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  12. 12
    Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

    Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1 著者: Arvid Suls, Peter Dedeken, Karolien Goffin, Hilde Van Esch, Patrick Dupont, David Cassiman, Judith Kempfle, Thomas V. Wuttke, Yvonne G. Weber, Holger Lerche, Zaid Afawi, Wim Vandenberghe, Amos D. Korczyn, Samuel F. Berkovic, Dana Ekstein, Sara Kivity, Philippe Ryvlin, Laurence Claes, Liesbet Deprez, Snezana Maljevic, A. Vargas, Tine Van Dyck, D. Goossens, Jurgen Del‐Favero, Koen Van Laere, Peter De Jonghe, Wim Van Paesschen

    出版事項 2008
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    Artigo
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  13. 13
    A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

    A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome 著者: Alexander G. Bassuk, Robyn H. Wallace, Aimee C. Buhr, Andrew R. Buller, Zaid Afawi, Masahito Shimojo, Shingo Miyata, Shan Chen, Pedro Gonzalez‐Alegre, Hilary Griesbach, Shu Wu, Marcus Nashelsky, Eszter K. Vladar, Dragana Antic, Polly J. Ferguson, Sebahattin Çırak, Thomas Voït, Matthew P. Scott, Jeffrey D. Axelrod, Christina A. Gurnett, Azhar S. Daoud, Sara Kivity, Miriam Y. Neufeld, Aziz Mazarib, Rachel Straussberg, Simri Walid, Amos D. Korczyn, Diane C. Slusarski, Samuel F. Berkovic, Hatem El‐Shanti

    出版事項 2008
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    Artigo
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  14. 14
    Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

    Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 著者: Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle, Jacinta M. McMahon, Brian J. O’Roak, Joseph Cook, Adiba Khan, Michael O. Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoff Wallace, Thorsten Stanley, Ann Bye, Andrew Bleasel, Katherine B. Howell, Sara Kivity, Mark T. Mackay, Victoria Rodriguez‐Casero, Richard Webster, Amos D. Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman‐Sagie, Dorit Lev, Rikke S. Møller, Deepak Gill, Danielle M. Andrade, Jeremy L. Freeman, Lynette G. Sadleir, Jay Shendure, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford

    出版事項 2013
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    Artigo
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  15. 15
    Neurodevelopmental Disorders Caused by De Novo Variants in <i>KCNB1 </i>Genotypes and Phenotypes

    Neurodevelopmental Disorders Caused by De Novo Variants in <i>KCNB1 </i>Genotypes and Phenotypes 著者: Carolien G. F. de Kovel, Steffen Syrbe, Eva H. Brilstra, Nienke E. Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava, Hande Cagaylan, Uluç Yiş, Carol Saunders, Martin B. Rook, Susanna Plugge, Hiltrud Muhle, Zaid Afawi, Karl Martin Klein, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Ethan M. Goldberg, Eric D. Marsh, Sudha Kilaru Kessler, Christina Bergqvist, Laura K. Conlin, Bryan L. Krok, Isabelle Thiffault, Manuela Pendziwiat, Ingo Helbig, Tilman Polster, Ingo Borggraefe, Johannes R. Lemke, Marie-José van den Boogaardt, Rikke S. Møller, Bobby P.C. Koeleman

    出版事項 2017
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    Artigo
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  16. 16
    Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

    Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes 著者: Carolina Courage, Karen Oliver, Eon Joo Park, Jillian M. Cameron, Kariona A. Grabińska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi, Betül Baykan, Christian Brandt, Carlo Di Bonaventura, Hui Bein Chew, Chiara Criscuolo, Leanne M. Dibbens, Barbara Castellotti, P. Riguzzi, Angelo Labate, Alessandro Filla, Anna Teresa Giallonardo, Géza Berecki, Christopher B. Jackson, Tarja Joensuu, John A. Damiano, Sara Kivity, Amos D. Korczyn, Aarno Palotie, Pasquale Striano, Davide Uccellini, Loretta Giuliano, Eva Andermann, Ingrid E. Scheffer, Roberto Michelucci, Melanie Bahlo, Silvana Franceschetti, William C. Sessa, Samuel F. Berkovic, Anna‐Elina Lehesjoki

    出版事項 2021
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    Artigo
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  17. 17
    Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

    Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly 著者: Katia Hardies, Patrick May, Tania Djémié, Oana Tarța-Arsene, Tine Deconinck, Dana Craiu, Ingo Helbig, Arvid Suls, Rudi Balling, Sarah Weckhuysen, Peter De Jonghe, Jennifer Hirst, Zaid Afawi, Nina Barišić, Stéphanie Baulac, Hande Çağlayan, Christel Depienne, Carolien G. F. de Kovel, Petia Dimova, Rosa Guerrero, Renzo Guerrini, Helle Hjalgrim, Dorota Hoffman‐Zacharska, Johanna Jähn, Karl Martin Klein, Bobby P.C. Koeleman, Eric Leguern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Rikke S. Møller, Ulrich Stephani, Pasquale Striano, Tiina Talvik, Sarah von Spiczak, Yvonne G. Weber, Federico Zara

    出版事項 2014
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    Artigo
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  18. 18
    A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

    A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy 著者: Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens, Karen Oliver, Snezana Maljevic, Marta A. Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci, Salla Markkinen, Sarah E. Heron, Michael S. Hildebrand, Eva Andermann, Frédérick Andermann, Antonio Gambardella, Paolo Tinuper, Laura Licchetta, Ingrid E. Scheffer, Chiara Criscuolo, Alessandro Filla, Edoardo Ferlazzo, Jamil Ahmad, Adeel Ahmad, Betül Baykan, Edith Said, Meral Topçu, P. Riguzzi, Mary D. King, Çiğdem Özkara, Danielle M. Andrade, Bernt A. Engelsen, Arielle Crespel, Matthias Lindenau, Ebba Lohmann, Veronica Saletti, João Massano, Michael Privitera, Alberto J. Espay, Brice Kauffmann, Michael Duchowny, Rikke S. Møller, Rachel Straussberg, Zaid Afawi, Bruria Ben‐Zeev, Kaitlin E. Samocha, Mark J. Daly, Steven Petrou, Holger Lerche, Aarno Palotie, Anna-Elina Lehesjoki

    出版事項 2014
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    Artigo
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  19. 19
    X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

    X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment 著者: Leanne M. Dibbens, Patrick Tarpey, Kim Hynes, Marta A. Bayly, Ingrid E. Scheffer, Raffaella Smith, Jamee M. Bomar, Edwina Sutton, Lucianne Vandeleur, Cheryl Shoubridge, Sarah Edkins, Samantha J. Turner, Claire Stevens, Sarah O’Meara, Calli Tofts, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kelly Halliday, David Jones, Rebecca Lee, Mark Madison, Tatiana Mironenko, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, John Teague, Ed Dicks, Adam P. Butler, Andrew Menzies, Andy Jenkinson, Rebecca Shepherd, James F. Gusella, Zaid Afawi, Aziz Mazarib, Miriam Y. Neufeld, Sara Kivity, Dorit Lev, Tally Lerman‐Sagie, Amos D. Korczyn, Christopher P. Derry, Grant R. Sutherland, Kathryn Friend, Marie Shaw, Mark Corbett, Hyung‐Goo Kim, Daniel H. Geschwind, Paul Q. Thomas, Eric Haan, Stephen G. Ryan, Shane McKee, Samuel F. Berkovic, P. Andrew Futreal, Michael R. Stratton, John C. Mulley, Jozef Gécz

    出版事項 2008
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    Artigo
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  20. 20
    <i>TBC1D24</i> genotype–phenotype correlation

    <i>TBC1D24</i> genotype–phenotype correlation 著者: Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Kevin Lüthy, Mattéa J. Finelli, Patrik Verstreken, Aaron L. Cardon, Barbara Gnidovec Stražišar, J. Lloyd Holder, Gaëtan Lesca, Maria Margherita Mancardi, Anne Lise Poulat, Gabriela M. Repetto, Siddharth Banka, Leonilda Bilo, Laura E. Birkeland, Friedrich Bosch, Knut Brockmann, J. Helen Cross, Diane Doummar, Têmis Maria Félix, Fabienne Giuliano, Mutsuki Hori, Irina Hüning, Hulia Kayserili, Usha Kini, Melissa Lees, Girish Meenakshi, Leena Mewasingh, Alistair T. Pagnamenta, Silvio Peluso, Antje Mey, Gregory M. Rice, Jill A. Rosenfeld, Jenny C. Taylor, Matthew M. Troester, Christine M. Stanley, Dorothée Ville, Magdalena Walkiewicz, Antonio Falace, Anna Fassio, Johannes R. Lemke, Saskia Biskup, Jessica Tardif, Norbert Fonya Ajeawung, Aslıhan Tolun, Mark Corbett, Jozef Gécz, Zaid Afawi, Katherine B. Howell, Karen Oliver, Samuel F. Berkovic, Ingrid E. Scheffer, De Falco Fa, Peter L. Oliver, Pasquale Striano, Federico Zara, Philippe M. Campeau, Sanjay M. Sisodiya

    出版事項 2016
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    Artigo
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